日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

α-Hydrazino Acids Inhibit Pyridoxal Phosphate-Dependent Decarboxylases via "Catalytically Correct" Ketoenamine Tautomers: A Special Motif for Chemical Biology and Drug Discovery?

α-肼酸通过“催化正确的”酮烯胺互变异构体抑制磷酸吡哆醛依赖性脱羧酶：化学生物学和药物发现的特殊基序？

期刊:ACS Catalysis
影响因子:13.1
doi:10.1021/acscatal.5c00326
Baine, Jonathan M; Duhoo, Yoan; Doukov, Tzanko; Desfosses, Ambroise; Bisello, Giovanni; Beio, Matthew L; Bauer, Olivia; Perduca, Massimiliano; Bacia-Verloop, Maria; Bertoldi, Mariarita; Phillips, Robert S; Gutsche, Irina; Berkowitz, David B
发表日期：2025
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Mitapivat metabolically reprograms human β-thalassemic erythroblasts, increasing their responsiveness to oxidation

Mitapivat 可代谢性地重编程人类β-地中海贫血红细胞，增强其对氧化反应的敏感性。

期刊:Blood Advances
影响因子:7.1
doi:10.1182/bloodadvances.2024013591
Siciliano, Angela; D'Alessandro, Angelo; Matte, Alessandro; Bisello, Giovanni; Bertoldi, Mariarita; Dzieciatkowska, Monika; Argabright, Amy; Pozzetto, Richard Huot; Riccardi, Veronica; Mattarei, Andrea; Ongaro, Alberto; Ceolan, Jacopo; Russo, Roberta; Rivadeneyra, Leonardo; Wind-Rotolo, Megan; Iolascon, Achille; Brugnara, Carlo; De Franceschi, Lucia
细胞生物学
红细胞
贫血
代谢
发表日期：2025
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The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis.

CRISPR-Cas9 敲除 DDC SH-SY5Y 体外模型用于研究 AADC 缺乏症，为 R347Q 和 L353P 变体的致病性提供了见解：横断面结构和功能分析

期刊:FEBS Journal
影响因子:4.2
doi:10.1111/febs.70120
Carmona-Carmona Cristian Andres, Bisello Giovanni, Franchini Rossella, Lunardi Gianluigi, Galavotti Roberta, Perduca Massimiliano, Ribeiro Rui P, Belviso Benny Danilo, Giorgetti Alejandro, Caliandro Rocco, Lievens Patricia M-J, Bertoldi Mariarita
DDC
发表日期：2025
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Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein

AADC缺乏症的轻度/中度表型：重点关注芳香族氨基酸脱羧酶蛋白

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12791
Bisello, Giovanni; Franchini, Rossella; Carmona, Cristian Andres Carmona; Bertoldi, Mariarita
发表日期：2025
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An attenuated, adult case of AADC deficiency demonstrated by protein characterization.

通过蛋白质表征证实，这是一例症状较轻的成人 AADC 缺乏症病例

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2024.101071
Bisello Giovanni, Saris Christiaan G J, Franchini Rossella, Verbeek Marcel M, Willemsen Michel A A P, Perduca Massimiliano, Bertoldi Mariarita
免疫/内分泌
发表日期：2024
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Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency.

人类芳香族氨基酸脱羧酶是一种不对称且灵活的酶：与芳香族氨基酸脱羧酶缺乏症有关

期刊:Protein Science
影响因子:5.2
doi:10.1002/pro.4732
Bisello Giovanni, Ribeiro Rui P, Perduca Massimiliano, Belviso Benny Danilo, Polverino De' Laureto Patrizia, Giorgetti Alejandro, Caliandro Rocco, Bertoldi Mariarita
免疫/内分泌
Human
发表日期：2023
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Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants

病例报告：儿童期癫痫和边缘性智力功能障碍掩盖了与复合杂合DDC基因致病变异相关的AADC缺乏症

期刊:Frontiers in Neurology
影响因子:2.8
doi:10.3389/fneur.2023.1284339
Cursio, Ida; Siliquini, Sabrina; Carducci, Claudia; Bisello, Giovanni; Mastrangelo, Mario; Leuzzi, Vincenzo; Bertoldi, Mariarita; Marini, Carla
DDC
癫痫
神经科学
发表日期：2023
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Oxygen reactivity with pyridoxal 5'-phosphate enzymes: biochemical implications and functional relevance

氧与磷酸吡哆醛酶的反应性：生化意义和功能相关性

期刊:Amino Acids
影响因子:2.4
doi:10.1007/s00726-020-02885-6
Bisello, Giovanni; Longo, Carmen; Rossignoli, Giada; Phillips, Robert S; Bertoldi, Mariarita
发表日期：2020
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